Thiopurine Methyltransferase Deficiency

Preferred Label : Thiopurine Methyltransferase Deficiency;

NCIt synonyms : TPMT Deficiency;

NCI Metathesaurus CUI : CL449060;

Origin ID

C4389;

UMLS CUI

C0342801;

Currated CISMeF NLP mapping
- Thiopurine S methyltranferase deficiency [MeSH concept]
- Thiopurine S-methyltransferase deficiency [ORDO Disease]
- Thiopurine methyltransferase deficiency (disorder) [Inactive SNOMED CT concept]
- Thiopurines, poor metabolism of, 1 [OMIM Phenotype]
- thiopurine S methyltranferase deficiency [MeSH Supplementary Concept]
- thiopurine S-methyltransferase deficiency [DO Concept]
- thiopurine methyltransferase deficiency [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thiopurine S methyltranferase deficiency [MeSH concept]
- Thiopurine S-methyltransferase deficiency [ORDO Disease]
- Thiopurine methyltransferase deficiency (disorder) [Inactive SNOMED CT concept]
- Thiopurines, poor metabolism of, 1 [OMIM Phenotype]
- thiopurine S methyltranferase deficiency [MeSH Supplementary Concept]
- thiopurine S-methyltransferase deficiency [DO Concept]
- thiopurine methyltransferase deficiency [Disease (Nov.)]
associated_with_malfunction_of_gene_product
- Thiopurine S-Methyltransferase [NCIt concept]
disease_has_associated_gene
- TPMT Gene [NCIt concept]
- TPMT wt Allele [NCIt concept]
- TPMT*2 Allele [NCIt concept]
- TPMT*3A Allele [NCIt concept]
- TPMT*3C Allele [NCIt concept]
- TPMT*V2 Allele [NCIt concept]
- TPMT*V3 Allele [NCIt concept]
- TPMT*V4 Allele [NCIt concept]
- TPMT*V5 Allele [NCIt concept]
related_to_genetic_biomarker
- TPMT Gene [NCIt concept]